Incidental Mutation 'IGL02973:Lipe'
ID365894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipe
Ensembl Gene ENSMUSG00000003123
Gene Namelipase, hormone sensitive
Synonyms4933403G17Rik, HSL
Accession Numbers

Genbank: NM_010719, NM_001039507; MGI: 96790

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02973
Quality Score
Status
Chromosome7
Chromosomal Location25379527-25398710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25383632 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 740 (N740S)
Ref Sequence ENSEMBL: ENSMUSP00000123485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000054301] [ENSMUST00000149349] [ENSMUST00000205698] [ENSMUST00000205923] [ENSMUST00000206861]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003207
AA Change: N470S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: N470S

DomainStartEndE-ValueType
Pfam:HSL_N 44 358 4.6e-148 PFAM
Pfam:DUF2424 345 504 1.1e-8 PFAM
Pfam:Abhydrolase_3 388 548 3e-36 PFAM
low complexity region 611 626 N/A INTRINSIC
Pfam:Abhydrolase_3 684 771 6.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054301
AA Change: N427S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123
AA Change: N427S

DomainStartEndE-ValueType
Pfam:HSL_N 1 315 1.4e-148 PFAM
Pfam:DUF2424 302 461 1.5e-8 PFAM
Pfam:Abhydrolase_3 345 505 5.2e-36 PFAM
low complexity region 568 583 N/A INTRINSIC
Pfam:Abhydrolase_3 641 728 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000066316
Predicted Effect probably damaging
Transcript: ENSMUST00000149349
AA Change: N740S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: N740S

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Pfam:HSL_N 319 627 1.2e-116 PFAM
Pfam:DUF2424 616 774 1.2e-8 PFAM
Pfam:Abhydrolase_3 658 817 1.9e-34 PFAM
low complexity region 881 896 N/A INTRINSIC
Pfam:Abhydrolase_3 951 1041 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205787
Predicted Effect probably benign
Transcript: ENSMUST00000205923
AA Change: I167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206588
Predicted Effect possibly damaging
Transcript: ENSMUST00000206861
AA Change: N427S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations of this locus result in abnormal lipid homeostasis and, in some lines, defects in spermatogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Targeted, other(5) Gene trapped(2)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,731,133 L193P probably benign Het
Ago2 A T 15: 73,123,465 probably benign Het
Ankrd26 A G 6: 118,523,550 S987P probably damaging Het
Ap2a2 T C 7: 141,631,364 F938L possibly damaging Het
Arhgap35 A G 7: 16,562,878 V754A possibly damaging Het
Atp10b A T 11: 43,197,509 N314I probably damaging Het
Atp5a1 T C 18: 77,780,149 V291A probably damaging Het
Ccm2 C A 11: 6,584,544 P19T probably damaging Het
Cdc5l C A 17: 45,404,647 A680S probably benign Het
Cds1 A G 5: 101,812,510 T276A probably damaging Het
Cit A G 5: 116,005,999 R1976G possibly damaging Het
Col6a5 T C 9: 105,925,821 D1315G unknown Het
Emilin1 T G 5: 30,920,663 L922R probably damaging Het
Fank1 T C 7: 133,876,849 L213P probably damaging Het
Foxc2 T C 8: 121,118,049 S479P probably benign Het
Gm14548 T C 7: 3,897,240 Y121C probably damaging Het
Golgb1 G A 16: 36,912,080 R563H possibly damaging Het
Hoxb13 A G 11: 96,194,843 Y134C probably damaging Het
Krtap4-16 A T 11: 99,851,341 C78S possibly damaging Het
Lars C T 18: 42,214,759 probably null Het
Mbd1 C T 18: 74,275,427 probably benign Het
Mbd5 A G 2: 49,313,709 D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 Y338H probably damaging Het
Pdgfrl A G 8: 40,985,594 D189G probably damaging Het
Plxnc1 T C 10: 94,810,684 N1293S probably damaging Het
Ppm1e C A 11: 87,240,662 A302S probably damaging Het
Rassf8 A G 6: 145,817,190 probably benign Het
Rttn T C 18: 88,972,494 W52R probably damaging Het
Skint8 T C 4: 111,939,593 V298A probably benign Het
Tulp1 A T 17: 28,358,542 probably benign Het
Unc5c T A 3: 141,788,890 D321E probably benign Het
Usp16 G A 16: 87,479,739 C654Y probably damaging Het
Vwce G A 19: 10,655,400 W575* probably null Het
Wdr89 T G 12: 75,633,099 D127A probably damaging Het
Zc3h6 G A 2: 128,997,795 R176Q probably damaging Het
Zfp942 A G 17: 21,932,991 probably null Het
Other mutations in Lipe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lipe APN 7 25383552 missense probably damaging 1.00
IGL00517:Lipe APN 7 25388560 unclassified probably null
IGL00817:Lipe APN 7 25388449 missense probably damaging 1.00
IGL01459:Lipe APN 7 25383542 missense probably damaging 1.00
IGL01946:Lipe APN 7 25383276 missense possibly damaging 0.90
IGL02931:Lipe APN 7 25383335 splice site probably benign
IGL03091:Lipe APN 7 25380755 missense probably damaging 1.00
reservoir UTSW 7 25380143 missense probably damaging 1.00
3-1:Lipe UTSW 7 25397820 missense probably damaging 0.97
PIT4243001:Lipe UTSW 7 25395546 missense probably benign
R0062:Lipe UTSW 7 25398449 missense possibly damaging 0.46
R0062:Lipe UTSW 7 25398449 missense possibly damaging 0.46
R0432:Lipe UTSW 7 25398488 missense probably benign 0.00
R0528:Lipe UTSW 7 25398476 missense possibly damaging 0.92
R0534:Lipe UTSW 7 25388186 missense possibly damaging 0.66
R1487:Lipe UTSW 7 25384815 missense possibly damaging 0.47
R1502:Lipe UTSW 7 25398147 missense possibly damaging 0.66
R1606:Lipe UTSW 7 25388144 missense probably damaging 1.00
R1713:Lipe UTSW 7 25385325 missense probably damaging 0.99
R2147:Lipe UTSW 7 25388521 missense probably benign 0.01
R3031:Lipe UTSW 7 25384895 missense possibly damaging 0.65
R3110:Lipe UTSW 7 25398423 missense probably benign
R3112:Lipe UTSW 7 25398423 missense probably benign
R3792:Lipe UTSW 7 25397620 missense possibly damaging 0.82
R4453:Lipe UTSW 7 25397690 missense probably damaging 0.99
R4582:Lipe UTSW 7 25397702 missense probably benign
R4816:Lipe UTSW 7 25380143 missense probably damaging 1.00
R5639:Lipe UTSW 7 25383325 missense probably benign 0.00
R5653:Lipe UTSW 7 25398408 missense probably benign 0.08
R6322:Lipe UTSW 7 25380536 missense probably damaging 1.00
R6575:Lipe UTSW 7 25383324 missense probably benign 0.03
R7065:Lipe UTSW 7 25385178 critical splice donor site probably null
R7250:Lipe UTSW 7 25388660 start gained probably benign
R7485:Lipe UTSW 7 25380611 missense probably benign 0.01
R7636:Lipe UTSW 7 25388617 missense probably benign 0.42
Posted On2015-12-18